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. 2014 Jul 31:1:14004.
doi: 10.1038/hgv.2014.4. eCollection 2014.

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

Artem V Artemov  1 , Eugenia S Boulygina  2 , Svetlana V Tsygankova  2 , Artem V Nedoluzhko  2 , Nikolay N Chekanov  1 , Natalia M Gruzdeva  2 , Natalia D Selezneva  3 , Irina F Roshchina  3 , Svetlana I Gavrilova  3 , Boris B Velichkovsky  4 , Konstantin G Skryabin  5 , Egor B Prokhortchouk  1
Affiliations

Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

Artem V Artemov et al. Hum Genome Var. .

Abstract

We report a family case of type II early-onset Alzheimer's disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients.

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Figures

Figure 1
Figure 1
Genealogy tree of the studied family. Rectangles indicate male individuals, circles indicate female individuals. Symbols representing the patients diagnosed with AD are filled with black, symbols representing the patients diagnosed with MCI are filled with gray. The code names are shown for the patients analyzed in the study.
See this image and copyright information in PMC

References

    1. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y et al. Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene. Nature 1995; 376: 775–778. - PubMed
    1. Cruchaga C, Chakraverty S, Mayo K, Vallania FLM, Mitra RD, Faber K et al. for the NIA-LOAD/NCRAD Family Study Consortium. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families. PLoS ONE 2012; 7: e31039. - PMC - PubMed
    1. Beecham GW, Martin ER, Li Y-J, Slifer MA, Gilbert JR, Haines JL et al. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet 2009; 84: 35–43. - PMC - PubMed
    1. Blom ES, Giedraitis V, Arepalli S, Hamshere ML, Adighibe O, Goate A et al. Further analysis of previously implicated linkage regions for Alzheimer’s disease in affected relative pairs. BMC Med Genet 2009; 10: 122. - PMC - PubMed
    1. Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C et al. Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer’s disease Ibero-American cohort. Alzheimers Res Ther 2012; 4: 34. - PMC - PubMed

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